UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35286747_35286750delinsCCCT , CM000673.2:g.35286747_35286750delinsCCCT | GRCh38 |
| NC_000011.9:g.35308294_35308297delinsCCCT , CM000673.1:g.35308294_35308297delinsCCCT | GRCh37 |
| NC_000011.8:g.35264870_35264873delinsCCCT | NCBI36 |
| NG_008727.1:g.137809_137812delinsAGGG | |
| NG_008727.2:g.137809_137812delinsAGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278379.9:c.1286+7_1286+10delinsAGGG MANE Select | ENSP00000278379.3:n.1286+7_1286+10delinsA... | |
| ENST00000395750.6:c.1274+7_1274+10delinsAGGG | ENSP00000379099.2:n.1274+7_1274+10delinsA... | |
| ENST00000395753.6:c.1259+7_1259+10delinsAGGG | ENSP00000379102.1:n.1259+7_1259+10delinsA... | |
| ENST00000479543.2:n.838+7_838+10delinsAGGG | ||
| ENST00000531628.2:c.1286+7_1286+10delinsAGGG | ENSP00000436029.2:n.1286+7_1286+10delinsA... | |
| ENST00000606205.6:c.1286+7_1286+10delinsAGGG | ENSP00000476124.2:n.1286+7_1286+10delinsA... | |
| ENST00000642171.1:c.1286+7_1286+10delinsAGGG | ENSP00000495538.1:n.1286+7_1286+10delinsA... | |
| ENST00000642216.1:n.841_844delinsAGGG | ||
| ENST00000642448.1:n.1378+7_1378+10delinsAGGG | ||
| ENST00000642578.1:c.1259+7_1259+10delinsAGGG | ENSP00000494076.1:n.1259+7_1259+10delinsA... | |
| ENST00000642769.1:c.552+7_552+10delinsAGGG | ||
| ENST00000643000.1:c.1259+7_1259+10delinsAGGG | ENSP00000495164.1:n.1259+7_1259+10delinsA... | |
| ENST00000643134.1:c.1286+7_1286+10delinsAGGG | ENSP00000495188.1:n.1286+7_1286+10delinsA... | |
| ENST00000643305.1:c.1286+7_1286+10delinsAGGG | ENSP00000494828.1:n.1286+7_1286+10delinsA... | |
| ENST00000643454.1:c.1277+7_1277+10delinsAGGG | ENSP00000495126.1:n.1277+7_1277+10delinsA... | |
| ENST00000643522.1:c.1052+7_1052+10delinsAGGG | ENSP00000496375.1:n.1052+7_1052+10delinsA... | |
| ENST00000644050.1:c.1259+7_1259+10delinsAGGG | ENSP00000496123.1:n.1259+7_1259+10delinsA... | |
| ENST00000644299.1:c.1259+7_1259+10delinsAGGG | ENSP00000494669.1:n.1259+7_1259+10delinsA... | |
| ENST00000644351.1:c.1286+7_1286+10delinsAGGG | ENSP00000496587.1:n.1286+7_1286+10delinsA... | |
| ENST00000644459.1:c.1286+7_1286+10delinsAGGG | ENSP00000495861.1:n.1286+7_1286+10delinsA... | |
| ENST00000644779.1:c.1397+7_1397+10delinsAGGG | ENSP00000494258.1:n.1397+7_1397+10delinsA... | |
| ENST00000644868.1:c.1277+7_1277+10delinsAGGG | ENSP00000496760.1:n.1277+7_1277+10delinsA... | |
| ENST00000645194.1:c.1259+7_1259+10delinsAGGG | ENSP00000496093.1:n.1259+7_1259+10delinsA... | |
| ENST00000645303.1:c.1301+7_1301+10delinsAGGG | ENSP00000496667.1:n.1301+7_1301+10delinsA... | |
| ENST00000645634.1:c.1259+7_1259+10delinsAGGG | ENSP00000493945.1:n.1259+7_1259+10delinsA... | |
| ENST00000646080.1:c.1277+7_1277+10delinsAGGG | ENSP00000494113.1:n.1277+7_1277+10delinsA... | |
| ENST00000646099.1:c.1274+7_1274+10delinsAGGG | ENSP00000495799.1:n.1274+7_1274+10delinsA... | |
| ENST00000646167.1:c.902+7_902+10delinsAGGG | ENSP00000495246.1:n.902+7_902+10delinsAGG... | |
| ENST00000647076.1:c.162+7_162+10delinsAGGG | ||
| ENST00000647104.1:c.1259+7_1259+10delinsAGGG | ENSP00000494025.1:n.1259+7_1259+10delinsA... | |
| ENST00000647193.1:n.419_422delinsAGGG | ||
| ENST00000647372.1:c.1259+7_1259+10delinsAGGG | ENSP00000495277.1:n.1259+7_1259+10delinsA... | |
| ENST00000278379.7:c.1286+7_1286+10delinsAGGG | ENSP00000278379.3:n.1286+7_1286+10delinsA... | |
| ENST00000395750.5:c.1259+7_1259+10delinsAGGG | ENSP00000379099.1:n.1259+7_1259+10delinsA... | |
| ENST00000395753.5:c.1259+7_1259+10delinsAGGG | ENSP00000379102.1:n.1259+7_1259+10delinsA... | |
| ENST00000479543.1:n.31+7_31+10delinsAGGG | ||
| ENST00000531628.1:c.439+7_439+10delinsAGGG | ||
| ENST00000606205.5:c.1286+7_1286+10delinsAGGG | ENSP00000476124.1:n.1286+7_1286+10delinsA... | |
| NM_001195728.2:c.1259+7_1259+10delinsAGGG | NP_001182657.1:n.1259+7_1259+10delinsAGGG... | |
| NM_001252652.1:c.1259+7_1259+10delinsAGGG | NP_001239581.1:n.1259+7_1259+10delinsAGGG... | |
| NM_004171.3:c.1286+7_1286+10delinsAGGG | NP_004162.2:n.1286+7_1286+10delinsAGGG | |
| XM_005253067.1:c.1277+7_1277+10delinsAGGG | XP_005253124.1:n.1277+7_1277+10delinsAGGG... | |
| XM_011520284.1:c.1334+7_1334+10delinsAGGG | XP_011518586.1:n.1334+7_1334+10delinsAGGG... | |
| XM_011520285.1:c.1274+7_1274+10delinsAGGG | XP_011518587.1:n.1274+7_1274+10delinsAGGG... | |
| XM_011520286.1:c.1334+7_1334+10delinsAGGG | XP_011518588.1:n.1334+7_1334+10delinsAGGG... | |
| XM_011520287.1:c.1100+7_1100+10delinsAGGG | XP_011518589.1:n.1100+7_1100+10delinsAGGG... | |
| XM_011520285.2:c.1274+7_1274+10delinsAGGG | XP_011518587.1:n.1274+7_1274+10delinsAGGG... | |
| XM_017018136.1:c.1301+7_1301+10delinsAGGG | XP_016873625.1:n.1301+7_1301+10delinsAGGG... | |
| XM_017018137.1:c.1259+7_1259+10delinsAGGG | XP_016873626.1:n.1259+7_1259+10delinsAGGG... | |
| XM_017018138.1:c.1259+7_1259+10delinsAGGG | XP_016873627.1:n.1259+7_1259+10delinsAGGG... | |
| XM_017018139.1:c.1052+7_1052+10delinsAGGG | XP_016873628.1:n.1052+7_1052+10delinsAGGG... | |
| NM_004171.4:c.1286+7_1286+10delinsAGGG MANE Select | NP_004162.2:n.1286+7_1286+10delinsAGGG | |
| NM_001195728.3:c.1259+7_1259+10delinsAGGG | NP_001182657.1:n.1259+7_1259+10delinsAGGG... | |
| NM_001252652.2:c.1259+7_1259+10delinsAGGG | NP_001239581.1:n.1259+7_1259+10delinsAGGG... |